C0268596[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195222	NM_004453.4(ETFDH):c.51dup (p.Ala18fs)	ETFDH (A18fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1019560	NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	ETFDH (R51Q)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1805118	NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)	ETFDH (S490* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2594	NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	ETFA (T266M +1 more)	Single nucleotide variant (missense variant)	ETFA-related condition +2 more	GPathogenic
Select item 429752	NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	ETFA (R223* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805746	NM_001985.3(ETFB):c.136del (p.Val46fs)	ETFB (V137fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic

ClinVar